Linked Data
ClinVar Variation Id:
337450
ClinVar RCV Id:
RCV000268768
dbSNP Id:
rs566067694
gnomAD v2:
2-96916412-G-A
gnomAD v3:
2-96250674-G-A
gnomAD v4:
2-96250674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250674G>A , CM000664.2:g.96250674G>A | GRCh38 |
| NC_000002.11:g.96916412G>A , CM000664.1:g.96916412G>A | GRCh37 |
| NC_000002.10:g.96280139G>A | NCBI36 |
| NG_027695.1:g.20340C>T , LRG_528:g.20340C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*3134C>T MANE Select | ENSP00000258439.3:n.*3134C>T | |
| ENST00000258439.7:c.*3134C>T | ENSP00000258439.2:n.*3134C>T | |
| NM_001193304.2:c.*3134C>T | NP_001180233.1:n.*3134C>T | |
| NM_017849.3:c.*3134C>T , LRG_528t1:c.*3134C>T | NP_060319.1:n.*3134C>T | |
| XM_017004450.1:c.*2435C>T | XP_016859939.1:n.*2435C>T | |
| XM_017004452.1:c.*3134C>T | XP_016859941.1:n.*3134C>T | |
| NM_001193304.3:c.*3134C>T | NP_001180233.1:n.*3134C>T | |
| NM_017849.4:c.*3134C>T MANE Select | NP_060319.1:n.*3134C>T |